FOR IMMEDIATE RELEASE:
Coalition to Cure CHD2 Launched
New nonprofit organization formed to accelerate research to find a cure for CHD2-related neurodevelopmental disorders
Boise, Idaho, January 7, 2021 Epilepsy and autism advocates and parents of children affected by CHD2-related neurodevelopmental disorders announce the formation of Coalition to Cure CHD2, a nonprofit organization formed to accelerate research to find a cure for people with CHD2-related disorders.
CHD2-related disorders, or CHD2 syndrome, is a rare genetic condition and is thought to be the cause of 1% of developmental and epileptic encephalopathies. The CHD2 gene provides instructions for making a protein called chromodomain DNA helicase protein 2. This protein is found in cells throughout the body and regulates gene activity (expression) through a process known as chromatin remodeling. Having a mutation in this gene can cause drug-resistant epilepsy, including photosensitivity epilepsy, developmental and intellectual delays, and autism.
To stimulate the development of new therapies for treating CHD2-related disorders in the hopes of ultimately finding a cure, Coalition to Cure CHD2 will file an application with the IRS to acquire 501(c)3 tax-exempt status to help raise funds to accomplish its goals. Lauren Malko and Christine Salmi, both parents of a child affected by CHD2, are jointly leading the Coalition as Co-Presidents, in conjunction with a dedicated Board of Directors, all of whom are donating their time on a volunteer basis. As Malko enthusiastically noted, “Christine and I both have rewarding and demanding professions, but that didn’t mean we were going to sit back and let nature take its course; that just meant we were going to have to work harder. We were both very frustrated with the lack of understanding about the condition and both of us desired to fix the problem, not just band-aid it.”
To fix the problem, Salmi noted, “Coalition to Cure CHD2, in conjunction with our arsenal of Scientific Advisory Board members, who are leaders in their field, plan to work together to move promising ideas from academia to industry and speed the delivery of effective therapeutics to our CHD2 families.” In doing so, Coalition to Cure CHD2 hopes to raise several million dollars over the next three years. The first order of business for accomplishing its goals is to build a patient registry.
As Dr. Gemma Carvill, Assistant Professor of Neurology and Pharmacology with Northwestern University Feinberg School of Medicine and lead member of the Coalition’s Scientific Advisory Board, explained, “Patient registries are vital to accelerating research to find a cure. They allow us to understand the full spectrum of clinical features in patients with CHD2 mutations, as well as the types of mutations that cause this condition. Moreover, we can use this information to prospectively quickly identify patients eligible for a clinical trial as well as retrospectively analyze the effectiveness of an intervention.”
Christina SanInocencio, founder of the LGS Foundation and long-time epilepsy advocate, added, "I am delighted to be a part of the board of directors for Coalition to Cure CHD2 and to help advance research and understanding of this genetic disorder. Understanding the genetic underpinnings of the epilepsies is critical to developing treatments, and ultimately, a cure."
To generate more awareness of CHD2-related disorders, Coalition to Cure CHD2 has created an annual Awareness Day, which is February 2. As Malko explained, “February 2nd will be a day where all families affected by CHD2 around the world will be encouraged to share their story in order to celebrate our children and raise awareness about CHD2. We hope we can shed some light for families, friends and our community on what CHD2 syndrome is and how wonderful our children are. Despite the obstacles that CHD2 patients and their families face, together they overcome obstacles daily, finding beauty and joy in the smallest ways.”
“Our hope on this day,” Salmi explained, “is that CHD2-affected families feel like they are a part of this amazing community and realize that they are not alone. We are all in this together. We also hope that by raising awareness, families with undiagnosed children might recognize their kids in ours and push for genetic testing to get the answers they need.”
There are currently no FDA-approved treatments for anyone with a CHD2 mutation. Patients are monitored for management of multiple developmental and medical conditions, which can include epilepsy, autism, ADHD, and speech and language delays.
About Coalition to Cure CHD2
Coalition to Cure CHD2 is a nonprofit organization accelerating research to find a cure for those affected by CHD2-related neurodevelopmental disorders. Coalition to Cure CHD2 identifies and funds projects that overcome critical barriers to establishing successful gene therapies and drug development and coordinates scientific efforts to improve efficiency and speed in these areas. Contributions to Coalition to Cure CHD2 will be tax deductible upon receipt of a tax-exempt determination from the IRS. Coalition to Cure CHD2’s application for 501(c)3 tax-exempt status is currently pending. To learn more or donate to this cause, please go to www.curechd2.org.